This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
Nair R., et al. Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene AJHG Volume 78, Issue 5, May 2006, Pages 827-851
Psoriasis is an autoimmune skin disease affecting 2% of the United States population (2). Psoriasis causes skin cells to divide rapidly creating scaly plaques and inflammation. These symptoms create a negative impact on the quality of life, especially mental health (3). Studies using affected twins and families have identified a genetic determinant of psoriasis, PSORS1 (Psoriasis Susceptibility locus 1). PSORS1 lies in the major histocompatibility complex (MHC) genomic region, which is responsible for making MHC proteins present protein fragments to T (immune) cells in order to create an immune response. Allelic (gene) association studies have narrowed down the large MHC genomic region to the human leukocyte antigen-class C (HLA-C) gene (1).
One snag in proving that HLA-C is a genetic determinant for psoriasis is that the MHC region has very low recombination (or variation) making linkage disequilibrium (examines how multiple genes are combined/associated together over time) studies poor evidence (4). By analyzing ancestral haplotypes (combination/associated of DNA sequences/genes) one can determine if human individuals carry part of the MHC genomic region, and, if this specific region is associated with psoriasis. Haplotype analyses resulted in strong evidence that the HLA-C genomic region is associated with psoriasis risk (1).
One snag in proving that HLA-C is a genetic determinant for psoriasis is that the MHC region has very low recombination (or variation) making linkage disequilibrium (examines how multiple genes are combined/associated together over time) studies poor evidence (4). By analyzing ancestral haplotypes (combination/associated of DNA sequences/genes) one can determine if human individuals carry part of the MHC genomic region, and, if this specific region is associated with psoriasis. Haplotype analyses resulted in strong evidence that the HLA-C genomic region is associated with psoriasis risk (1).
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References
1. Nair, R., Stuart, P., et al. Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene. AJHG. Vol 78:5;827-51.
2. RS Stern, T Nijsten, SR Feldman, DJ Margolis, T Rolstad. Psoriasis is common, carries a substantial burden even when non extensive, and is associated with widespread treatment dissatisfaction J Investig Dermatol Symp Proc, 9 (2004), pp. 136-139
3. MA Gupta, NJ Schork, AK Gupta, S Kirkby, CN Ellis Suicidal ideation in psoriasis INT J Dermatol, 32 (1993), pp. 188-190
4. EC Walsh, KA Mather, et al. An integrated haplotype map of the human major histocompatibility complex Am J Hum Genet, 73 (2003), pp. 580-590
2. RS Stern, T Nijsten, SR Feldman, DJ Margolis, T Rolstad. Psoriasis is common, carries a substantial burden even when non extensive, and is associated with widespread treatment dissatisfaction J Investig Dermatol Symp Proc, 9 (2004), pp. 136-139
3. MA Gupta, NJ Schork, AK Gupta, S Kirkby, CN Ellis Suicidal ideation in psoriasis INT J Dermatol, 32 (1993), pp. 188-190
4. EC Walsh, KA Mather, et al. An integrated haplotype map of the human major histocompatibility complex Am J Hum Genet, 73 (2003), pp. 580-590
Site created by Valeri Lapacek
Genetics 677 Assignment, Spring 2012
University of Wisconsin-Madison
Last Updated: 5/23/2012
Genetics 677 Assignment, Spring 2012
University of Wisconsin-Madison
Last Updated: 5/23/2012